He mea maʻamau ka makaʻu, ka huikau, a me ka nui o nā nīnau ke ʻike ʻoe he maʻi laha ʻole kou i kapa ʻia ʻo ' hATTR amyloidosis '. Mai makaʻu, ʻoiai inā he paʻakikī iki ke kani ʻana o ka inoa. Ma kēia ʻatikala, e hoʻāʻo mākou e wehewehe iā ʻoe ma ke ʻano maʻalahi. ʻOi loa aku inā ʻo kou manawa mua kēia e ʻike ai i ke kauka e pili ana i kēia maʻi, e kamaʻilio mākou e pili ana i ke ʻano o ka hoʻomākaukau maikaʻi loa no ia.
I ka ʻōlelo maʻalahi, he aha ka hATTR Amyloidosis?
I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ia i hoʻokumu ʻia e kahi loli a i ʻole mutation i loko o kahi gene i kapa ʻia ʻo TTR i loko o ko mākou kino. ʻO kēia mutation genetic ke kumu o kahi protein ʻano ʻē i kapa ʻia ʻo amyloid e hana i loko o ko mākou kino.
E noʻonoʻo e like me kahi ʻauwai i paʻa, hoʻomaka mālie kēia mau protein amyloid e hōʻiliʻili i loko o nā ʻōpū koʻikoʻi e like me ko kākou puʻuwai, nā puʻupaʻa, ka ʻōnaehana nerve, a me ka ʻōnaehana hoʻoheheʻe. Ke hōʻiliʻili lākou, ʻaʻole hiki i kēlā mau ʻōpū ke hana pono i kā lākou hana maʻamau. ʻO ia ka manawa e hoʻomaka ai nā hōʻailona e ʻike ʻia.
Pehea ʻoe e hoʻomākaukau ai ma mua o kou hele ʻana i ke kauka?
He mea nui loa ka hoʻomākaukau iki ʻana ma mua o kou hālāwai mua ʻana me ke kauka. E makaʻala i kēia mau mea.
1. E ʻike pono i ka mōʻaukala olakino o kou ʻohana
ʻO kēia ka mea nui loa. He maʻi hoʻoilina ka hATTR Amyloidosis. I ka lāʻau lapaʻau, kapa mākou ia he 'autosomal dominant'. ʻO ke ʻano kēia inā loaʻa i kekahi o kou mau mākua ka mutation gene e pili ana i kēia maʻi, he 50% kou manawa e hoʻoilina pū kekahi.
No laila, inā loaʻa kēia maʻi i kou makuahine, kou makuakāne, kou mau kaikaina, a i ʻole kāu mau keiki, he mea naʻauao ke kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo ʻana i ka genetic, ʻoiai inā ʻaʻohe ou hōʻailona.
2. E lawe pū me ʻoe i nā hōʻike hoʻāʻo a pau āu e loaʻa nei.
Inā ua loaʻa iā ʻoe kahi hoʻokolohua genetic, e like me ka hoʻāʻo koko a i ʻole ka hoʻāʻo lawai, e ʻimi ana i ka gene TTR, e hōʻoia e lawe mai i kēlā mau hōʻike āpau. Aia ma mua o 120 mau hoʻololi gene TTR. ʻOi aku ka maʻamau o kekahi mau hoʻololi gene i kekahi mau hui lāhui.
| ʻOkoʻa Gene TTR | Nā hui lāhui maʻamau |
|---|---|
| ʻAʻohe V30M | Nā kānaka o ka lāhui Pukiki, Sepania, Palani, Kuekene a i ʻole Kepanī. |
| ʻAʻohe ʻike V122I | Loaʻa ia ma kahi o 4% o ka heluna kanaka ʻApelika-ʻAmelika. |
| ʻAʻohe ʻike | He mea maʻamau i waena o nā kānaka ma United Kingdom a me Ireland. |
He mea nui: ʻOiai inā hōʻoia kāu hoʻāʻo genetic he loli ka gene TTR iā ʻoe, ʻaʻole ia manaʻo e loaʻa maoli iā ʻoe ka hATTR. E hana kāu kauka i kekahi mau hoʻokolohua ʻē aʻe e hōʻoia i ka maʻi.
He aha nā hoʻokolohua e hiki i ke kauka ke kauoha?
Inā kānalua ʻoe ua loaʻa iā ʻoe kēia maʻi a ua ʻike mua ʻia paha, e nānā pono mua kāu kauka iā ʻoe (hoʻokolokolo kino). Eia kekahi, hiki ke kauoha ʻia nā hoʻokolohua aʻe e hōʻoia i ka maʻi a nānā i kona holomua:
- Biopsy : ʻO kēia ka hoʻāʻo koʻikoʻi loa e hōʻoia i ka maʻi. ʻO ka maʻamau, pili kēia i ka lawe ʻana i kahi ʻāpana liʻiliʻi loa o ka ʻiʻo mai kou ʻōpū a i ʻole kahi ʻē aʻe a nānā iā ia ma lalo o kahi microscope e ʻike inā he mau waihona amyloid.
- Nā hoʻāʻo koko a me ka mimi: Ke nānā nei kēia mau hoʻāʻo i nā protein kikoʻī i loko o ke koko a i ʻole ka mimi e hiki ke hōʻike i kēia maʻi.
- Scintigraphy: He scan kūikawā kēia e nānā ai i nā waihona amyloid i loko o ka puʻuwai.
- Ke nānā ʻana i ka hana o ka puʻuwai : Ke ʻike ʻia ka maʻi, hiki ke hana ʻia nā scan e like me ka echocardiogram a i ʻole ka cardiac MRI e ʻike i ka nui o ka pōʻino i hana ʻia i ka puʻuwai.
- Nā hoʻāʻo hoʻoili aʻalolo: Kōkua kēia mau hoʻāʻo e hoʻoholo inā he pōʻino aʻalolo.
Ke nīnau nei ke kauka e pili ana i kou mau hōʻailona!
E nīnau maoli nō ke kauka iā ʻoe, "Pehea kou manaʻo?" He mea nui loa ia e haʻi iā ia e pili ana i nā hōʻailona āu e loaʻa ai, ʻoiai nā mea liʻiliʻi loa. ʻO kēia no ka mea hiki i kēia maʻi ke hoʻopilikia i nā ʻāpana he nui o ke kino. Inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona, e haʻi i kāu kauka e pili ana iā lākou.
| ʻŌnaehana i hoʻopilikia ʻia | Nā hōʻailona e hiki ke ʻike ʻia |
|---|---|
| Ka pōʻino o ke aʻalolo | ʻO ka maneʻo, ke ʻūlū, ka ʻeha, ka nalowale o ka ʻike o ka wela/anu, ka nalowale o ke kaohi o ke kino, ka nāwaliwali, a me ka carpal tunnel syndrome. |
| Ka pōʻino o ka puʻuwai | Nā hōʻailona o ka hāʻule ʻana o ka puʻuwai e like me ka luhi, ka luhi pinepine, nā wāwae pehu, a me ka poniuniu. |
| Ka hōʻino ʻana i ka ʻōnaehana nerve autonomic (ka ʻōnaehana e kaohi ana i nā mea e hana ana ma waho o kā mākou mana) | Nā maʻi pinepine o ke ala mimi, nā loli o ka hou ʻana, ka poniuniu i ke kū ʻana, ka hana pono ʻole o ka moekolohe, ka nausea, ka luaʻi ʻana, ka ʻōpū ʻeha, ka maʻi pākī, a i ʻole ka paʻa ʻana o ka ʻōpū. |
| Nā hiʻohiʻona ʻē aʻe | Nā hōʻailona e like me ka ʻike maka pōwehiwehi, ka ʻeha poʻo, ka nalowale o ka hoʻomanaʻo, ka hopu ʻana, a i ʻole ka hahau ʻana. |
He aha nā lāʻau lapaʻau no kēia?
He mau makahiki i hala aku nei, ʻo ka hoʻoili ʻana o ke akepaʻa wale nō ka lāʻau lapaʻau no kēia maʻi. ʻO ka mea pōmaikaʻi, aia i kēia manawa he nui nā lāʻau lapaʻau hou e hiki ke kāohi i ka wikiwiki o ka holomua ʻana o kēia maʻi. E koho kāu kauka i ka lāʻau lapaʻau ma muli o ʻekolu mau kumu:
1. Kou mau hōʻailona
2. ʻOkana i hoʻopilikia ʻia
3. Ka pae o ka maʻi
Ua hoʻokaʻawale ʻia ka maʻi hATTR i ʻehā mau pae nui.
- Pae 0:Aia ka loli ʻana o ka gene TTR, akā ʻaʻohe hōʻailona.
- Pae I: Hiki iā ʻoe ke hele maʻamau, akā aia nā hōʻailona neurological liʻiliʻi e like me ka numbness a me ka ʻeha ma nā wāwae a me nā wāwae.
- Pae II: Pono ke kōkua e hele. ʻOi aku ka koʻikoʻi o nā hōʻailona neurological ma nā lima, nā wāwae, a me ke kino.
- Pae III: ʻOi aku ka koʻikoʻi o nā hōʻailona a hiki iā lākou ke hoʻopaʻa ʻia ma ka noho huila a i ʻole kahi moe.
Aia kekahi mau ʻano lapaʻau:
- Nā mea hoʻopau leo o ka gene TTR: Hana kēia mau lāʻau lapaʻau ma ka hōʻemi ʻana i ka hana ʻana o ka protein TTR pilikia. Hoʻemi kēia i ka waiho ʻana o ka amyloid. Nā laʻana: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)`.
- Nā mea hoʻopaʻa TTR: Hana kēia ma ka pale ʻana i ka protein TTR mai ka pelu hewa ʻana a me ka hoʻokumu ʻana i nā waihona amyloid. Nā laʻana: `Tafamidis (Vyndamax, Vyndaqel)`.
- Nā mea hoʻohaʻahaʻa fibril Amyloid: Kōkua kēia mau lāʻau lapaʻau i ka wāwahi ʻana i nā waihona amyloid i hana mua ʻia. Aia nō ka hapa nui o kēia mau mea i ke kahua noiʻi.
E kuhikuhi mai ʻoe iaʻu i nā loea ʻē aʻe?
ʻAe. No ka mea, hoʻopilikia kēia maʻi i nā ʻāpana like ʻole o ke kino, hiki i kāu kauka ke kuhikuhi iā ʻoe i nā loea ʻē aʻe e mālama i nā hōʻailona like ʻole.
- Kauka Cardiologist: No ka puʻuwai puʻuwai a me nā hōʻailona o ka hāʻule puʻuwai.
- Gastroenterologist: No nā kūlana e like me ka maʻi diarrhea a me ka constipation.
- Urologist: No nā pilikia o ke ala mimi .
- Kauka maka: No nā pilikia ʻike maka.
- Loea Orthopedic: No nā kūlana e like me ka carpal tunnel syndrome.
E kamaʻilio pū kāu kauka me ʻoe e pili ana i ka wānana o ka maʻi. Hiki i kēia ke hana ma waena o 3 a 15 mau makahiki ma hope o ka hōʻoia ʻana. Akā e hoʻomanaʻo, pili ia i ka hoʻololi ʻana o ka gene āu a me nā ʻōpū e hoʻopilikia ai. I ka wā e noiʻi mau ʻia ai nā lāʻau lapaʻau hou, aia ka manaʻolana no ka wā e hiki mai ana.
Leka Lawe-Home
- ʻAʻole ka hATTR Amyloidosis he mea e makaʻu ai, he maʻi hoʻoilina laha ʻole ia e hiki ke mālama ʻia.
- I ka wā o kāu manawa kau ʻana me ke kauka, he mea nui loa ia e kamaʻilio e pili ana i ka mōʻaukala olakino o kou ʻohana .
- Mai kānalua e haʻi aku i kāu kauka e pili ana i nā hōʻailona āu e ʻike nei, ʻaʻohe mea liʻiliʻi.
- I kēia lā, aia nā lāʻau lapaʻau hou loa e kaohi ai i ka holomua o ka maʻi.
- E kamaʻilio ākea me kāu kauka e pili ana i nā nīnau a i ʻole nā makaʻu āu e loaʻa ai. ʻAʻole ʻoe hoʻokahi i kēia huakaʻi.
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